The Interaction between Hb A1C and Selected Genetic Factors in the African American Population in the USA

2020 ◽  
Author(s):  
Neil S Harris ◽  
Kaitlin D Weaver ◽  
Stacy G Beal ◽  
William E Winter
Keyword(s):  
Black Population ◽  
Exchange Chromatography ◽  
People Of Color ◽  
Structural Variations ◽  
Hb A1c ◽  
Globin Chains ◽  
High Prevalence ◽  
Patient Specimen ◽  
The Usa

Abstract Background The global prevalence of diabetes mellitus has been growing in recent decades and the complications of longstanding type 2 diabetes continue to place a burden on healthcare systems. The hemoglobin A1c (Hb A1c) content of the blood is used to assess an individual’s degree of glycemic control averaged over 2 to 3 months. In the USA, diabetes is the seventh leading cause of death. , indigenous, people of color (BIPOC) are disproportionately affected by diabetes compared to non-Hispanic whites. There are many reports of interaction of Hb A1c and hematologic conditions that have a high prevalence in the Black population; some of these effects are contradictory and not easily explained. This review attempts to document and categorize these apparently disparate effects and to assess any clinical impact. Methods Hb A1C can be determined by a variety of techniques including cation-exchange chromatography, electrophoresis, immunoassays, and affinity chromatography. The amount of Hb A1c present in a patient specimen depends not only on blood glucose but is strongly influenced by erythrocyte survival and by structural variations in the globin chains. Sickling hemoglobinopathies are well-represented in the USA in African Americans and the effects of these hemoglobin disorders as well as G6PD deficiency is examined. Conclusion Hb A1c measurement should always be performed with a cautious approach. The laboratory scientist should be aware of possible pitfalls in unquestioningly determining Hb A1c without a consideration of hematologic factors, both inherited and acquired. This presents a challenge as often times, the laboratory is not aware of the patient’s race.

Premature ovarian ageing following heterozygous loss of Senataxin

2020 ◽  
Author(s):  
G N Subramanian ◽  
M Lavin ◽  
H A Homer
Keyword(s):  
Dna Damage ◽  
Neurodegenerative Disorder ◽  
Dna Helicase ◽  
Dna Integrity ◽  
Ovarian Activity ◽  
Homozygous Mutation ◽  
Female Mice ◽  
Mating Trial ◽  
High Prevalence

Abstract Premature loss of ovarian activity before 40 years of age is known as primary ovarian insufficiency (POI) and occurs in ∼1% of women. A more subtle decline in ovarian activity, known as premature ovarian ageing (POA), occurs in ∼10% of women. Despite the high prevalence of POA, very little is known regarding its genetic causation. Senataxin (SETX) is an RNA/DNA helicase involved in repair of oxidative stress-induced DNA damage. Homozygous mutation of SETX leads to the neurodegenerative disorder, ataxia oculomotor apraxia type 2 (AOA2). There have been reports of POI in AOA2 females suggesting a link between SETX and ovarian ageing. Here, we studied female mice lacking either one (Setx+/−) or both (Setx−/−) copies of SETX over a 12- to 14-month period. We find that DNA damage is increased in oocytes from 8-month-old Setx+/− and Setx−/− females compared with Setx+/+ oocytes leading to a marked reduction in all classes of ovarian follicles at least 4 months earlier than typically occurs in female mice. Furthermore, during a 12-month long mating trial, Setx+/− and Setx−/− females produced significantly fewer pups than Setx+/+ females from 7 months of age onwards. These data show that SETX is critical for preventing POA in mice, likely by preserving DNA integrity in oocytes. Intriguingly, heterozygous Setx loss causes an equally severe impact on ovarian ageing as homozygous Setx loss. Because heterozygous SETX disruption is less likely to produce systemic effects, SETX compromise could underpin some cases of insidious POA.

scholarly journals High prevalence of previously unknown heart failure and left ventricular dysfunction in patients with type 2 diabetes

Diabetologia ◽  
2012 ◽  
Vol 55 (8) ◽  
pp. 2154-2162 ◽  
Author(s):  
L. J. M. Boonman-de Winter ◽  
F. H. Rutten ◽  
M. J. M. Cramer ◽  
M. J. Landman ◽  
A. H. Liem ◽  
...  
Keyword(s):  
Heart Failure ◽  
Type 2 Diabetes ◽  
Left Ventricular Dysfunction ◽  
Ventricular Dysfunction ◽  
Left Ventricular ◽  
High Prevalence

404 Sleep-Disordered Breathing In Native Hawaiians/Pacific Islanders With Associated Comorbidities And Adherence To Therapy

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A160-A161
Author(s):  
Darin Ryujin ◽  
Krishna Sundar ◽  
Allyson Gilles
Keyword(s):  
Sleep Disordered Breathing ◽  
Demographic Data ◽  
Ethnic Origin ◽  
Pacific Islanders ◽  
Native Hawaiians ◽  
University Of Utah ◽  
High Prevalence ◽  
Artery Disease ◽  
Disordered Breathing

Abstract Introduction Sleep-disordered breathing in Native Hawaiians and Pacific Islanders (NHPIs), its relationship to type 2 diabetes mellitus (DM), chronic renal, and heart disease, is not well known. NHPIs comprise only 1.3% of Utah’s population, but have the highest rates of DM and deaths due to diabetic kidney disease in Utah. This study assessed the nature of sleep-disordered breathing, its association with demographic variables, and comorbidities, and adherence patterns to positive airway pressure (PAP) therapy. Methods University of Utah sleep clinics patient databases from 2014 were evaluated to identify NHPIs using first/last names. Electronic medical records were reviewed to confirm patient ethnic origin, demographic data, and comorbidities. The most recent PAP downloads were obtained. Results Of 106 NHPIs were identified, data available for 104 patients (71 males, 33 females) was analyzed. Mean age of males was 47 + 13 years and females 48±13 years. Prevalence rates of obesity were 13% (female 9%, male 15%) with BMI≥30, 33% (female 24%, male 23%) with BMI≥35, and 49% (female 58%, Male 23%) with BMI≥40). Majority of patients had severe OSA (61% males with AHI≥30; 39% females with ≥ 30), with overall mean AHI of 47±38. A high prevalence of comorbidities was noted: 61% hypertension (male 58%; female 67%), diabetes 54% (male 48%, female 67%), renal disease 20% (male 21%, female 18%), coronary artery disease 13% (male 14%, female 9%), and congestive heart failure 13% (male 15%, female 9%). Prevalence of lung disease was low 13% (male 9%, female 18%). Conclusion NHPIs evaluated for sleep-disordered breathing have high rates of obesity, severe OSA, and concerning comorbidities. PAP adherence in this group was poor compared to overall adherence for patients seen in University of Utah sleep clinics (~70%). Further research is required to assess the relationships between OSA, associated comorbidities, and disease outcomes. Addressing low rates of PAP adherence in this population may afford opportunities to improve health outcomes. Support (if any) n/a

scholarly journals Lipoprotein(a) and Risk of Type 2 Diabetes

2010 ◽  
Vol 56 (8) ◽  
pp. 1252-1260 ◽  
Author(s):  
Samia Mora ◽  
Pia R Kamstrup ◽  
Nader Rifai ◽  
Børge G Nordestgaard ◽  
Julie E Buring ◽  
...  
Keyword(s):  
Risk Factors ◽  
Type 2 Diabetes ◽  
Cardiovascular Risk ◽  
Men And Women ◽  
Lipoprotein A ◽  
Incident Type ◽  
Reactive Protein ◽  
Hb A1c ◽  
Hormone Use

BACKGROUND Previous studies have demonstrated that cardiovascular risk is higher with increased lipoprotein(a) [Lp(a)]. Whether Lp(a) concentration is related to type 2 diabetes is unclear. METHODS In 26 746 healthy US women (mean age 54.6 years), we prospectively examined baseline Lp(a) concentrations and incident type 2 diabetes (n = 1670) for a follow-up period of 13 years. We confirmed our findings in 9652 Danish men and women with prevalent diabetes (n = 419). Analyses were adjusted for risk factors that included age, race, smoking, hormone use, family history, blood pressure, body mass index, hemoglobin A1c (Hb A1c), C-reactive protein, and lipids. RESULTS Lp(a) was inversely associated with incident diabetes, with fully adjusted hazard ratios (HRs) and 95% CIs for quintiles 2–5 vs quintile 1 of 0.87 (0.75–1.01), 0.80 (0.68–0.93), 0.88 (0.76–1.02), and 0.78 (0.67–0.91); P for trend 0.002. The association was stronger in nonfasting women, for whom respective HRs were 0.79 (0.58–1.09), 0.78 (0.57–1.08), 0.66 (0.46–0.93), and 0.56 (0.40–0.80); P for trend 0.001; P for interaction with fasting status 0.002. When we used Lp(a) ≥10 mg/L and Hb A1c <5% as reference values, the adjusted HRs were 1.62 (0.91–2.89) for Lp(a) <10 mg/L and Hb A1c <5%, 3.50 (3.06–4.01) for Lp(a)≥10 mg/L and Hb A1c 5%–<6.5%, and 5.36 (4.00–7.19) for Lp(a) <10 mg/L and Hb A1c 5%–<6.5%. Results were similar in nonfasting Danish men and women, for whom adjusted odds ratios were 0.75 (0.55–1.03), 0.64 (0.46–0.88), 0.74 (0.54–1.01), and 0.58 (0.42–0.79) for Lp(a) quintiles 2–5 vs quintile 1; P for trend 0.002. CONCLUSIONS Our results indicated that Lp(a) was associated inversely with risk of type 2 diabetes independently of risk factors, in contrast to prior findings of positive associations of Lp(a) with cardiovascular risk.

scholarly journals Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

2017 ◽  
Vol 115 (2) ◽  
pp. 379-384 ◽  
Author(s):  
Goo Jun ◽  
Alisa Manning ◽  
Marcio Almeida ◽  
Matthew Zawistowski ◽  
Andrew R. Wood ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Mexican American ◽  
Complex Disease ◽  
Rare Variants ◽  
Whole Genome Analysis ◽  
Mexican American Families ◽  
Extended Pedigrees ◽  
High Prevalence ◽  
Study Designs

A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association. Using gene expression data on 21,677 transcripts for 643 pedigree members, we identified evidence for large-effect rare-variant cis-expression quantitative trait loci that could not be detected in population studies, validating our approach. However, we did not identify any rare variants of large effect associated with T2D, or the related traits of fasting glucose and insulin, suggesting that large-effect rare variants account for only a modest fraction of the genetic risk of these traits in this sample of families. Reliable identification of large-effect rare variants will require larger samples of extended pedigrees or different study designs that further enrich for such variants.

DENTAL STATUS OF PATIENTS WITH TYPE 2 DIABETES

2021 ◽  
pp. 22-28
Author(s):  
Sultanshina A.R. ◽  
Kabirova M.F. ◽  
Bashirova T.V.
Keyword(s):  
Type 2 Diabetes ◽  
Oral Mucosa ◽  
Periodontal Diseases ◽  
Randomized Study ◽  
Main Group ◽  
Dental Status ◽  
Periodontal Tissues ◽  
High Prevalence ◽  
Destructive Processes

With diabetes, there is a violation of the microvasculature, a violation of the immune status, an increase in destructive processes in the bone tissue, which leads to the development and / or intensification of pathological processes. In the oral cavity, the most frequently diagnosed inflammatory periodontal diseases, chronic injuries of the oral mucosa (COP), recurrent aphthous stomatitis, COP candidiasis. The aim of our study was to study the dental status of patients with type 2 diabetes mellitus. Materials and Methods: A descriptive evaluative epidemiologically controlled, non-randomized study was conducted to determine the effect of type 2 diabetes on dental status. The main group (“case”) consisted of 68 patients with type 2 diabetes in the compensation phase (IA) and 56 patients in the subcompensation phase (IB). The comparison group included 60 patients without somatic pathology. All patients underwent a comprehensive dental examination, bacteriological and microscopic examination to identify fungi of the genus Candida. Results: in patients with subcompensated form of type 2 diabetes, there was an increase in the frequency of complaints of plaque on the tongue, burning sensation in the COP, dryness and changes in taste. Periodontal indices indicate that the patients of the main group have a high prevalence of inflammatory and destructive processes in the periodontal tissues (indices of PMA, KPI, Mullemann indices) with poor oral hygiene (OHI-S = 3.5 ± 0.4), which confirms the Friedman criterion (χ2 = 116.27; p = 0.0000) based on the calculation of Kendall's concordance coefficient (0.743). The diagnosis of oral mucosa candidiasis was confirmed in 74.6% of patients in the main group by bacteriological examination.

Sign in / Sign up

Export Citation Format

Share Document